Canonical Allele Identifier: CA381457236

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66282145A>C (hg19) ; chr11:g.66514674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514674A>C , CM000673.2:g.66514674A>C	GRCh38
NC_000011.9:g.66282145A>C , CM000673.1:g.66282145A>C	GRCh37
NC_000011.8:g.66038721A>C	NCBI36
NG_009093.1:g.9027A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.428A>C MANE Select	ENSP00000317469.7:p.Lys143Thr
ENST00000318312.11:c.428A>C	ENSP00000317469.7:p.Lys143Thr
ENST00000393994.4:c.428A>C	ENSP00000377563.2:p.Lys143Thr
ENST00000419755.3:c.539A>C	ENSP00000398526.3:p.Lys180Thr
ENST00000455748.6:c.428A>C	ENSP00000405764.2:p.Lys143Thr
ENST00000524458.5:c.*135A>C	ENSP00000436195.1:n.*135A>C
ENST00000524705.2:c.149A>C	ENSP00000436927.1:p.Lys50Thr
ENST00000524907.5:n.418A>C
ENST00000525809.5:c.160-866A>C	ENSP00000431187.1:n.160-866A>C
ENST00000526035.5:c.*135A>C	ENSP00000434197.1:n.*135A>C
ENST00000526760.5:c.*135A>C	ENSP00000432140.1:n.*135A>C
ENST00000527251.5:c.*135A>C	ENSP00000434360.1:n.*135A>C
ENST00000529766.5:n.435A>C
ENST00000529953.5:n.80A>C
ENST00000529955.5:n.446A>C
ENST00000532908.5:c.*135A>C	ENSP00000431866.1:n.*135A>C
ENST00000533430.5:n.206A>C
ENST00000533557.5:c.*135A>C	ENSP00000434619.1:n.*135A>C
ENST00000533644.5:c.428A>C	ENSP00000436073.1:p.Lys143Thr
ENST00000534730.5:n.440A>C
ENST00000630659.2:c.*135A>C	ENSP00000486455.1:n.*135A>C
NM_024649.4:c.428A>C	NP_078925.3:p.Lys143Thr
NM_024649.5:c.428A>C MANE Select	NP_078925.3:p.Lys143Thr